Pyloric atresia. A hereditary congenital anomaly with autosomal recessive transmission.

Pyloric atresia is a rare congenital anomaly; to date, only 29 newborns with this defect have been reported.Though familial occurrence of this anomaly has been reported twice (Benson and Coury, 1951; Thompson et al, 1968; Bronsther, Nadeau, and Abrams, 1971), no previous comments have been made concerning a possible genetic aetiology.The purpose of this paper is to report 5 additional familial cases* from two unrelated Israeli sibships and to stress the genetic factor responsible for this anatomical defect.Family A. This is a Jewish family (Fig. 1) from Iraq.The parents of the affected patients are first cousins.The family pedigree shows 2 infant deaths in the affected sibship, 5 deaths in the father's, and 3 in the mother's sibships while the family was still in Iraq.No re- liable information could be obtained regarding the causes of death or the ages of the deceased.Case 1. III.9, a male, was born at term following a normal pregnancy except for maternal hydramnios.Vomiting of gastric contents started immediately after birth.A plain x-ray of the abdomen showed a dilated stomach ('one bubble') with no gas beyond, suggestive of pyloric obstruction.At operation the stomach was markedly dilated with thickened walls.A fibrotic band, 3 cm long, connecting the stomach to the first part of the duodenum, replaced the pylorus.A Billroth I operation was carried out, but the infant died soon after operation.Case 2. III.11, a female, was born at term.Mater- nal hydramnios was recorded.Vomiting with abdo- minal distension appeared on the 3rd day, followed by dyspnea and signs of dehydration.A plain film of the abdomen showed air under the diaphragm.At opera- tion, a 6-cm rent on the posterior wall of the stomach was found, with a large amount of milk in the peritoneal cavity.The pylorus was atretic with a gap of 1 cm be-Received 20 July 1971.* Three were operated upon in our service and two were treated elsewhere.tween the stomach and duodenum.The tear was closed and an anterior gastrojejunostomy was carried out.The infant died 14 hours after operation.Severe peritonitis was found at necropsy.